Komplement-Komponente C6
Das C6-Gen kodiert einen Komplementfaktor des MAC (membrane attack complex). Mutationen führen zu C6-Mangel, welche sich in immunologischen Störungen äußern kann.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Rogne S et al. (1991) The human genes for complement components 6 (C6) and 9 (C9) are closely linked on chromosome 5.
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2. |
Spicer ST et al. (2007) Induction of passive Heymann nephritis in complement component 6-deficient PVG rats.
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3. |
Soejima M et al. (2005) Nucleotide sequence analyses of human complement 6 (C6) gene suggest balancing selection.
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4. |
Fernie BA et al. (1993) Correlation of a Glu/Ala substitution at position 98 with the complement C6 A/B phenotypes.
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5. |
Hobart MJ et al. (1993) Structure of the human C6 gene.
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6. |
Olving JH et al. (1980) Polymorphism of the sixth component of complement (C6) in Norwegian Lapps.
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7. |
Bender K et al. (1983) C6 linkage studies.
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8. |
Eldridge PR et al. (1983) The genetics of the sixth and seventh components of complement in the dog: polymorphism, linkage, locus duplication, and silent alleles.
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9. |
Tokunaga K et al. (1983) Polymorphism of the complement component C6 in Japanese.
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10. |
Nakamura S et al. (1984) Genetic polymorphism of complement C6 and haplotype analysis between C6 and C7 in a Japanese population.
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11. |
None (1984) Genetic polymorphism and linkage of the sixth and seventh complement components (C6 and C7) in the common marmoset.
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12. |
Tokunaga K et al. (1986) Family study on the polymorphisms of the sixth and seventh components (C6 and C7) of human complement: linkage and haplotype analyses.
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13. |
Haefliger JA et al. (1989) Complete primary structure and functional characterization of the sixth component of the human complement system. Identification of the C5b-binding domain in complement C6.
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14. |
DiScipio RG et al. (1989) The molecular architecture of human complement component C6.
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15. |
Jeremiah SJ et al. (1990) The assignment of the genes coding for human complement components C6 and C7 to chromosome 5.
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16. |
Podack ER et al. (1976) Purification of the sixth and seventh component of human complement without loss of hemolytic activity.
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17. |
Hobart MJ et al. (1978) Inherited structural variation and linkage relationships of C7.
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18. |
Coto E et al. (1991) DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes.
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19. |
Setién F et al. (1993) A physical map of the human complement component C6, C7, and C9 genes.
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20. |
Lachmann PJ et al. (1978) Combined genetic deficiency of C6 and C7 in man.
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21. |
Fernie BA et al. (1996) Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies.
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22. |
Vogler LB et al. (1979) Recurrent meningococcal meningitis with absence of the sixth component of complement: an evaluation of underlying immunologic mechanisms.
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23. |
Tedesco F et al. (1981) A lupus-like syndrome in a patient with deficiency of the sixth component of complement.
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24. |
Würzner R et al. (1995) Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6.
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25. |
Hobart MJ et al. (1993) A physical map of the C6 and C7 complement component gene region on chromosome 5p13.
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26. |
Nishizaka H et al. (1996) Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals.
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27. |
Zhu ZB et al. (1998) Molecular defects leading to human complement component C6 deficiency in an African-American family.
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28. |
Hobart MJ et al. (1998) The molecular basis of C6 deficiency in the western Cape, South Africa.
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29. |
Alvarez V et al. (1995) Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components.
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30. |
Olving JH et al. (1979) Genetic linkage relations of the sixth component of complement (C6).
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31. |
Hobart MJ et al. (1977) Linkage studies with C6.
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32. |
Olving JH et al. (1977) Nonlinkage between C6 and chromosome 6 markers.
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33. |
Orphanet article
Orphanet ID 160107
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34. |
NCBI article
NCBI 729
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35. |
OMIM.ORG article
Omim 217050
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Update: 14. August 2020